Lafora Therapy Development Pathway This pathway does not guarantee therapy approval, but instead shows the necessary steps a therapy must go through to become available to patients. Discovery & Early Development Early Preclinical Testing Advanced Preclinical Steps Human Safety Study & Dose Escalation Efficacy Study Regulatory Review Continued Monitoring Therapies are designed, synthesized, and evaluated for purity and stability. Therapies are tested in cells or mouse models to demonstrate safety and efficacy. Therapies are tested in animal models to validate the delivery method, dosing levels and dosing frequency A Phase I clinical study focuses on demonstrating safety in patients and finding an effective dosage. A Phase II/Ill study focuses on proving the therapy meaningfully slows or halts disease progression Review of data from the clinical trials by agencies such as the FDA are required before therapy approval. After approval, therapies may continue to be monitored for safety, effectiveness, and long-term outcomes. VAL-1221 Brain delivery is a major limitation, and therapy is currently not moving forward as an active Lafora disease therapy. Next-Generation Enzyme Fusion Therapies Preclinical work is focused on improving delivery to the brain using IV administration. EPM2A/EPM2B Gene Therapy Preclinical research to replace the mutated genes causing Lafora disease. Currently needing to complete toxicology (safety) studies Amylase Gene Therapy Preclinical work in progress to confirm amylase expression in cells and the ability to clear Lafora bodies (efficacy). VAL-0417 A preclinical enzyme-fusion therapy designed to help clear existing Lafora bodies. ICV delivery is being tested to confirm the drug reaches the brain before it can advance to the clinic. ION283 The current safety study has 10 patients who have received low levels the drug with no major safety issues. They are now in the dose escalation phase determine an effective dose.Chelsea's Hope Lafora Children Research Fund 2026

Lafora Therapy Q&A Resources

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Thank you to everyone who joined our recent Lafora Disease Therapy Q&A sessions. We are grateful for the thoughtful questions families submitted and for the continued advocacy, patience, and hope within this community.

During the sessions, we reviewed several new resources created to help explain the current Lafora disease therapy landscape, where different therapies stand in development, and what families can do to stay informed. Keep reading for links to the new therapy pages, resources, and ways to stay connected.

New Therapy Resources

Families can now review the following resources:

Lafora Disease Therapy Overview

Main Therapeutic Strategies Being Studied for Lafora Disease 1. Reduce New Lafora Body Formation These therapies are designed to slow or reduce new Lafora body formation, usually by reducing the activity of the protein glyocgen synthase (GYS1). They are not designed to remove Lafora bodies that already exist. H HO CHOH O H OH H H OH H CHOH O H OH H H C OH Examples: • ION283 (GYS1 ASO) • GYS1-reducing gene therapies H OH 2. Remove Existing Lafora Bodies These therapies are designed to break down or clear existing Lafora bodies, but delivering these therapies to the brain persists as a major challenge. Examples: • VAL-0417 • VAL-1221 • Next-gen enzyme fusion therapies • Amylase-delivering gene therapies 3. Restore Missing Gene Function These therapies are designed to restore the missing or nonworking gene function involved in Lafora disease. These therapies are gene-specific only apply to patients with mutations in the matching gene type. Examples: • EPMA gene therapy • EPM2B gene therapy Chelsea's Hope Lafora Children Research Fund

This webpage explains the main therapy strategies being studied for Lafora disease, including approaches designed to prevent new Lafora bodies from forming, remove existing Lafora bodies, or restore missing gene function. View the Lafora Disease Therapy Overview webpage here. >

Clinical Pipeline Progress

This webpage explains the steps therapies must move through before reaching patients, including preclinical studies, safety studies, dose escalation, efficacy trials, regulatory review, and continued monitoring. It also includes a current snapshot of where different Lafora therapies stand in the pipeline. View the Clinical Pipeline Progress webpage here. >

ION283 Safety Study Updates

This page will continue to be updated as new information becomes available about the ION283 safety study and next steps. View the ION283 Safety Study webpage. >

Repurposed Drug Resources

We also shared new resources about repurposed drugs. Repurposed drugs are medications originally developed or approved for another condition that are later studied to see whether they may help with Lafora disease.

These resources explain what repurposed drugs are, why they may matter for Lafora disease, and what examples are currently being studied or discussed:

  1. Repurposed Drugs 101
  2. Current Landscape of Repurposed Drugs for Lafora

ION283 Next Steps

During the Q&A, families also heard updates about ION283 and the next steps for moving the program forward.

ION283 remains the furthest along Lafora-specific therapy because it is already in a clinical study. The current focus is dose escalation, which means researchers are working to identify a dose that is safe and has the potential to provide clinical benefit.

Elpida Therapeutics has taken on the ION283 program and is working to move it forward as quickly and responsibly as possible. Important next steps include continued dose escalation as part of the safety study, manufacturing additional drug product, identifying potential phase II trial sites, submitting documentation for regulatory requirements, and planning for a future study that could support broader community access if successful.

At this time, expanded access or compassionate use is not available. More information is still needed about the correct dose, drug supply, trial design, and feedback from regulatory agencies before additional patients can receive ION283.

Chelsea’s Hope will continue sharing updates with families as soon as confirmed information becomes available.

How Families Can Stay Informed

 

We also encourage families to make sure their clinicians are connected with Chelsea’s Hope updates, especially as future clinical trial information becomes available.

Upcoming Events

September Courage in Care: G-Tubes to Manage Lafora Disease
Join us for the next Courage in Care session focused on G-tubes and Lafora disease management. Register for the September Courage in Care here. >

2026 Lafora Disease Science Symposium Dallas, TX 19-21 October2026 Lafora Disease Science Symposium
Families, researchers, clinicians, and advocates will come together to discuss the latest updates in Lafora disease research and care. Register for the 2026 Symposium here. >

Questions?

For general questions, please contact:
katherine@chelseashope.org

For ION283-specific questions, please contact:
ion283@chelseashope.org

For questions related to Elpida Therapeutics and ION283 development, please contact:
Terry@elpidatx.com

Thank you for continuing to stay engaged, ask questions, and advocate for the Lafora disease community. Together, we will keep working toward treatments and a cure!

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